ACTC1 missense variants in ExAC

ACTC1 gene summary
ACTC1 variants in DCM, HCM

The table below lists the ACTC1 missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 35084476 c.623G>A p.R208H missense 0.00004119●●●●●●
2. 35086982 c.28C>A p.L10M missense 0.00002517●●●●●●
3. 35085671 c.229A>G p.I77V missense 0.00002471●●●●●●
4. 35083338 c.967G>A p.A323T missense 0.00001715●●●●●●
5. 35086991 c.19A>T p.T7S missense 0.00001676●●●●●●
6. 35086987 c.23C>G p.T8S missense 0.00001676●●●●●●
7. 35082753 c.994A>G p.I332V missense 0.00001654●●●●●●
8. 35085683 c.217A>G p.I73V missense 0.00001648●●●●●●
9. 35086904 c.106A>G p.I36V missense 0.00000871●●●●●●
10. 35087008 c.2T>C p.Met1? missense 0.00000839●●●●●●
11. 35084386 c.713T>C p.L238P missense 0.00000824●●●●●●
12. 35085640 c.260T>G p.I87S missense 0.00000824●●●●●●
13. 35085619 c.281A>G p.N94S missense 0.00000824●●●●●●
14. 35084611 c.614C>G p.T205S missense 0.00000824●●●●●●
15. 35084421 c.678G>T p.E226D missense 0.00000824●●●●●●
16. 35084411 c.688G>T p.A230S missense 0.00000824●●●●●●
17. 35085599 c.301G>A p.E101K missense 0.00000824●●●●●●
18. 35083458 c.847A>G p.S283G missense 0.00000824●●●●●●
19. 35083402 c.903A>C p.L301F missense 0.00000824●●●●●●
20. 35082737 c.1010G>A p.R337H missense 0.00000824●●●●●●
21. 35082662 c.1085A>C p.Q362P missense 0.00000824●●●●●●
22. 35084689 c.536G>T p.R179L missense 0.00000824●●●●●●
23. 35085611 c.289C>T p.R97C missense 0.00000824●●●●●●
24. 35085632 c.268C>T p.H90Y missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.